Canonical Allele Identifier: CA354793921

Gene: ATR

Linked Data

• ClinVar Variation Id: 1760648
• ClinVar RCV Id: RCV002409867
• gnomAD v4: 3-142449571-C-A
• MyVariant Identifiers: chr3:g.142168413C>A (hg19) ; chr3:g.142449571C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142449571C>A , CM000665.2:g.142449571C>A	GRCh38
NC_000003.11:g.142168413C>A , CM000665.1:g.142168413C>A	GRCh37
NC_000003.10:g.143651103C>A	NCBI36
NG_008951.1:g.134256G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.7793G>T MANE Select	ENSP00000343741.4:p.Arg2598Leu
ENST00000513291.2:n.6502G>T
ENST00000653893.1:n.2651G>T
ENST00000654170.1:n.2636G>T
ENST00000656114.1:n.2879G>T
ENST00000656590.1:c.6720G>T
ENST00000658083.1:n.2973G>T
ENST00000661310.1:c.7601G>T	ENSP00000499589.1:p.Arg2534Leu
ENST00000665483.1:n.5333G>T
ENST00000666447.1:n.4296G>T
ENST00000666943.1:n.4525G>T
ENST00000350721.8:c.7793G>T	ENSP00000343741.4:p.Arg2598Leu
ENST00000504521.5:c.382G>T	ENSP00000422553.1:n.382G>T
ENST00000513291.1:c.4857G>T
ENST00000515810.1:c.219G>T	ENSP00000421870.1:n.219G>T
NM_001184.3:c.7793G>T	NP_001175.2:p.Arg2598Leu
XM_011512924.1:c.7799G>T	XP_011511226.1:p.Arg2600Leu
XM_011512925.1:c.7607G>T	XP_011511227.1:p.Arg2536Leu
XR_924147.1:n.10550G>T
XR_924148.1:n.8025G>T
NM_001354579.1:c.7601G>T	NP_001341508.1:p.Arg2534Leu
XR_001740179.2:n.8019G>T
XR_924148.2:n.8025G>T
NM_001184.4:c.7793G>T MANE Select	NP_001175.2:p.Arg2598Leu
NM_001354579.2:c.7601G>T	NP_001341508.1:p.Arg2534Leu